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- source_evidence_literature type ECO_0000212 NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_assertion description "[Loss-of-function mutations of CYP24A1, the enzyme that converts the major circulating and active forms of vitamin D to inactive metabolites, recently have been implicated in idiopathic infantile hypercalcemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_assertion evidence source_evidence_literature NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_assertion SIO_000772 25446019 NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_assertion wasDerivedFrom befree-20150227 NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_assertion wasGeneratedBy ECO_0000203 NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP345506.RAM_sw8cBAXjHzeUmgauFQ0_ycQxFMiEglbgwpLWQ83I0130_provenance.